A curated catalogue of human genomic structural variation




Variant Details

Variant: essv6728287



Internal ID9651207
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
Outerchr6:29945592..30009721hg38UCSC Ensembl
Outerchr6:29913369..29977498hg19UCSC Ensembl
Cytoband6p22.1
Allele length
AssemblyAllele length
hg3864130
hg1964130
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsesv2731778, esv2731776, esv2731777
Supporting Variants
SamplesSSM007
Known GenesHCG9, HLA-A, HLA-J, ZNRD1-AS1
MethodSequencing
AnalysisBreakdancer:4 times standard deviation,VariationHunter:4 times standard deviation and at least 3 supportting reads
PlatformIllumina HiSeq 2000
Comments
ReferenceWong_et_al_2012b
Pubmed ID23290073
Accession Number(s)essv6728287
Frequency
Sample Size96
Observed Gain0
Observed Loss1
Observed Complex0
Frequencyn/a


Hosted by The Centre for Applied Genomics
Grant support for DGV
Please read the usage disclaimer